The Year in Biomedicine

Light movement: Showing how optogenetics could be applied to medical problems, researchers genetically engineered a mouse to express a light-sensitive protein (shown in green) in its sciatic nerve. They could then trigger muscle movement by shining light on the muscle.

Stem cells

In October, 12 years after human embryonic stem cells were first isolated, a therapy derived from such cells was tested in humans for the first time (First Human Tests of Embryonic Stem Cell Therapy Underway). The therapy, developed by Geron, is designed to treat spinal-cord injury with an injection of differentiated neural cells into the injury site.

Because the clinical trial is the first of its kind, Geron has had to forge a new path forward with the U.S. Food and Drug Administration as the agency figures out how to regulate embryonic-stem-cell therapies and assess the safety of these cells. The company initially won approval to begin clinical tests last year, but a few months later these were put on hold because animal tests raised new safety concerns.(FDA lets stem cell trials resume)

While these two human trials mark major steps forward in stem-cell research, a federal judge in Washington, D.C., may have pushed the field a giant step back. In August, just 18 months after President Obama did away with an executive order from President George W. Bush’s administration that restricted the use of federal funds to a limited number of embryonic-stem-cell lines, Judge Royce Lamberth stunned the stem-cell community by issuing an injunction blocking federal funding for any research involving embryonic stem cells. (New Court Ruling Could Cripple Stem-Cell Research )

Researchers say the decision—even if it is later reversed—will have a damaging effect on the field, stunting promising medical research that was just building momentum. All grants under review at the nation’s largest funding agency, the National Institutes of Health (NIH), that involve human embryonic stem cells have been put on hold while the NIH and other government agencies try to get the injunction reversed.

The federal government quickly appealed the injunction, and an appeals court temporarily suspended it in September andheard the latest round of arguments in the case this month. It remains unclear how quickly that court will makes its decision, or when Judge Lamberth will make a final ruling.

In an ongoing effort to avoid the ethical battles that have stymied embryonic-stem-cell research, scientists developed a new method for making induced pluripotent stem cells, which are as flexible as embryonic stem cells but can be created from adult tissue without the use of embryos. (‘A New Way to Make Stem Cells’) The new method, developed by Derrick Rossi and collaborators at Harvard, is highly efficient and uses RNA instead of DNA to produce the four proteins needed to reprogram the cell. Eliminating the need for DNA bypasses some concerns in creating these cells, such as risk of growing tumors.

Genomics

This year, 10 years after the completion of the Human Genome Project, genome sequencing finally made its way into the practice of medicine. James Lupski, a physician-scientist who suffers from a neurological disorder called Charcot-Marie-Tooth, found the source of his disease after a 25-year search by sequencing his entire genome. (A Family Mystery, Solved by a Genome) Lupski’s research was the first to show how whole-genome sequencing can be used to identify the genetic cause of an individual’s disease

Scientists also are using sequencing to study and treat cancer, comparing the genomes of a patient’s healthy tissue and tumor tissue to identify the genetic mistakes that enabled the cancer cells to grow out of control. Steven Jones, Janessa Laskin, and collaborators at the British Columbia Cancer Agency used this approach to help select drugs for a man suffering from a rare adenocarcinoma. (Treating Cancer Based on Its Genome) Elaine Mardis and collaborators compared the genome sequence in a primary tumor and a metastatic tumor from the same patient to try to find mutations that allowed cells to break free from the original cancer site and spread through the body. (Genetic Clues to Cancer’s Spread) Foundation Medicine, a startup based in Cambridge, Massachusetts, aims to capitalize on these findings by creating a screening test capable of detecting variations in hundreds of cancer-linked genes. (Startup to Offer Patients a Genetic Profile of their Cancer)